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Horm Metab Res 2003; 35(1): 29-35
DOI: 10.1055/s-2003-38388
Original Clinical
© Georg Thieme Verlag Stuttgart · New York

Phenotypic Gender Differences in Subjects With Familial Partial Lipodystrophy (Dunnigan Variety) Due to a Nuclear Lamin A/C R482W Mutation

D.  Araújo-Vilar 1 , L.  Loidi 2 , F.  Domínguez 2 , J.  Cabezas-Cerrato 1
  • 1 Servicio de Endocrinoloxía e Nutrición, Departamento de Medicina, University of Santiago de Compostela, Spain
  • 2 Unidade de Medicina Molecular, INGO, Complexo Hospitalario Universitario de Santiago de Compostela, Faculty of Medicine, University of Santiago de Compostela, Spain
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Publication History

17 April 2002

19 August 2002

Publication Date:
01 April 2003 (online)

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Abstract

Phenotypic features appeared after puberty in female, but not male subjects with familial partial lipodystrophy (FPLD). We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W. Genetic studies were carried out on 14 members of the family. In eleven heterozygous mutation carriers (6 men, 5 women), body composition was evaluated by bioelectric impedance analysis, skin-fold measurements were taken, and lipid profiles were drawn. Moreover, plasma glucose, insulin, and leptin were determined, and insulin resistance and beta cell response were evaluated using HOMA. Ten healthy women and 10 healthy men matched for age and body mass index were used as control group. Body composition was similar in these patients to normal people. However, skin-folds of extremities were thinner in FPLD women compared with those of control subjects, but not in men. The affected women, but not men, showed hypoleptinaemia, insulin resistance, and beta-cell hyperresponse compared with unaffected women. The lipid profile was normal in the young patients, irrespective of sex. Type 2 diabetes mellitus and hypertriglyceridaemia were detected in old and overweight patients only. In conclusion, molecular diagnosis allows us to demonstrate that women with FPLD present both adipose tissue and biochemical abnormalities early in life, and this did not happen in affected men.

Key words

LMNA Gene - Subcutaneous Adipose Tissue - Insulin Resistance - Leptin - Body Composition - Lipid Profile

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D. Araújo-Vilar, M.D.

Servicio de Endocrinoloxía e Nutrición · Hospital Clínico Universitario de Santiago ·

Tv Choupana s/n · 15706 Santiago de Compostela · Spain

Phone: + 34 (981) 951 247

Fax: + 34 (981) 520 410

Email: david.araujo@ya.com

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